A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10564683



Internal ID5971720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84262858..84267719hg38UCSC Ensembl
Innerchr2:84262870..84267707hg38UCSC Ensembl
Outerchr2:84262846..84267731hg38UCSC Ensembl
chr2:84489982..84494843hg19UCSC Ensembl
Innerchr2:84489994..84494831hg19UCSC Ensembl
Outerchr2:84489970..84494855hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg384862
hg194862
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591509
Supporting Variants
SamplesNA19380
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10564683
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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